{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3078342959",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2071,
          "referenceAllele": "Q",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Gln2071Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA381936239",
          "hgvs": "NM_000260.4:c.6211C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "type": "amino-acid"
}